Annals of Movement Disorders

Myoclonus involves sudden, brief, involuntary jerks and can be a manifestation of various neurological conditions, including stroke. Movement disorders arising from cerebrovascular incidents are infrequent but well-documented.[1] While the basal ganglia is associated with such disorders, myoclonus originating from pontine lesions is particularly rare. This report adds to the limited literature on myoclonus secondary to pontine infarcts. A 68-year-old man with diabetes and hypertension presented with sudden onset of episodic, brief, involuntary jerks of the left lower limb from 1 day. On examination, he was conscious with normal vitals. Neurological examination showed left upper motor neuron facial palsy and left upper and lower limb power of 4/5, with mild brisk reflex on the left side with a National Institutes of Health Stroke Scale score of 5. The patient was observed to have brief involuntary jerks of the left lower limb [Video 1A]. These movements were present at rest and were not sensitive to stimulus. The patient maintained preserved awareness during the episodes, and the movements disappeared while walking [Video 1B]. Routine blood investigations were normal. Magnetic resonance imaging (MRI) of the brain revealed acute infarct in the tight hemipontine region [Figures 1 and 2]. Electroencephalogram showed no discharges. He was treated with antiplatelet therapy and statins. Myoclonic jerks were treated with levetiracetam 1 g/day and clonazepam 0.5 mg/day. Over the next 72 hours, the jerks subsided. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 1","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_s3uhpro0"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} Figure 1: Axial section of brain magnetic resonance imaging. Diffusion-weighted image shows diffusion restriction observed in the right hemipontine regionFigure 2: Axial section of brain magnetic resonance imaging. Apparent diffusion coefficient shows reversal in the right hemipontine regionThe frequency of post-stroke movement disorders is estimated to be between 1% and 4%. These disorders include hemichorea–hemiballism, (most commonly observed in acute stroke), dystonia, tremor, myoclonus, asterixis, myorhythmia, clonic perseveration, posturing from spasticity, and stereotypies. Various studies have reported convulsive-like movements ranging from isolated twitching/clonic movements of the extremities to generalized seizures in pontine ischemia or hemorrhage, as illustrated in Table 1.[2] Subcortical myoclonus is typically associated with lesions in the thalamus, midbrain, and pons.[1] The other unusual presentations include eight-and-half syndrome, pontine warning syndrome, locked-in syndrome, restless leg syndrome, peduncular hallucinosis, palatal myoclonus, and Ondine's curse syndrome.Table 1: Pontine infraction and hemorrhage with convulsive-like movements (Saposnik et al., 2001)Table 2: Role of various drugs in myoclonus (Kojovic et al.,2011)The exact mechanisms behind pontine stroke-induced myoclonus are not well understood. However, the possible mechanisms include the following: Disruption of brainstem circuits: The pontine infarct likely disrupts pathways involving the dentato-rubro-olivary circuit (Guillain–Mollaret triangle), crucial for coordinating motor control, which could explain the myoclonus[3] Thalamic disinhibition: Brainstem lesions can lead to disinhibition of thalamic nuclei, resulting in increased cortical excitability and involuntary movements[4] The literature on myoclonus in brainstem infarcts is limited. Avanzini et al[5] reported intention tremors with myoclonus secondary to a thalamic angioma. Inoa et al[6]. reported a case of generalized post-stroke myoclonus following a subthalamic nucleus infarct. The effectiveness of various drugs in treating different types of myoclonus varies remarkably as illustrated in Table 2 (Supplementary material).[7] Our patient showed improvement in myoclonic jerks within 72 hours of treatment, suggesting a favorable short-term prognosis [Video 2A and B]. However, long-term management and rehabilitation are necessary to address residual deficits. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 2","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_oovl9jjm"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} This case highlights the rarity of hyperkinetic movement disorders following a stroke, emphasizing the need to recognize myoclonus as a potential complication of pontine infarcts. Understanding the pathophysiological mechanisms can aid in accurate diagnosis and management, warranting further research to explore the relationship between brainstem lesions and movement disorders. Acknowledgement Nil. Author contribution Research project: Conception: Anish Mehta Organization: Shalini Sachin Execution: Shalini Sachin Review and critique: Manuscript preparation: Anish Mehta, Lakshmi Priya, Pradeep R, Mahendra Javali, Purushottham Acharya Ethical compliance statement The authors confirms that they have read the Journal's guidelines on ethical publication and affirm that this work is adhering to those guidelines Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Shalini Sachin

Anish Mehta

Lakshmi Priya

Pradeep R

Mahendra Javali

Purushottham Acharya

Focal myoclonic jerks after acute pontine infarct: A rare encounter

急性脑桥梗死后出现局灶性肌阵挛抽搐：罕见病例

Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal, dominant, episodic, and brief type of involuntary dyskinesia that lasts for seconds to minutes and is induced by sudden movement, startle, or hyperventilation with intact awareness and no postictal phenomenon.[1] It mimics epilepsy due to its varied clinical presentation. In this communication, we present a genetically proven case of an 11-year-old boy with PKD who was exhibiting episodic behavioral symptoms and episodes of oculogyric crisis in addition to dyskinetic movements that were previously misdiagnosed as focal epilepsy. The patient presented with premonitory symptoms of pain, paresthesia, and a stretching-like sensation in the left limb, followed by episodes of involuntary dyskinetic movements of the left upper and lower limbs lasting for approximately 2–3 minutes with intact awareness and no postictal phenomenon [Video 1]. The onset of symptoms was around 6 years of age. The frequency gradually increased to 20–30 times per day. There were independent episodes of anger outbursts amounting to both verbal and physical aggression toward bystanders on trivial provocation that lasted from 30 minutes to 10–12 hours. On some occasions, the patient slashed his wrist to bleed. He felt guilty after the incident and no postictal amnesia was documented. These episodes of anger outbursts were often followed by dyskinetic movements within a few hours or sometimes the next day. In addition, he had discrete episodes of abnormal involuntary upward deviation of both eyes lasting from a few seconds to several minutes without any change in consciousness, limb movements, or any other symptoms, which resolved spontaneously [Video 2]. There was no exposure to antipsychotic or any other medications prior to the onset of these three different types of episodic symptoms, i.e., dyskinesia, oculogyric crisis, and behavioral changes. In primary care, he was diagnosed as a case of focal epilepsy with behavioral disorder and showed minimal response with levetiracetam and valproate for focal epilepsy and olanzapine for behavioral changes. The poor response with these medications led him to seek treatment with us. Detailed history and home-recorded videos of these episodes with normal ictal and postictal electroencephalogram, brain magnetic resonance imaging, and metabolic parameters pointed to PKD. The oculogyric crisis was considered an independent phenomenon, and no change in the frequency was documented with antipsychotic exposure. The PRRT2 gene mutation (Exon 3, c.971 del, p.Gly 324 Glu fsTer13) later confirmed our diagnosis. The patient showed marked reduction in the frequency of dyskinesia and oculogyric crisis as well as behavioral changes on administration of phenytoin and quetiapine. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 1","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_ehjgxwso"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 2","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_xdzxifiq"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} In our case, the response of both oculogyric crisis and dyskinetic movements to antiepileptics connects PKD and epilepsy. The episodes of oculogyric crises can be a common manifestation of seizures arising from the frontal eye field.[2] Among other paroxysmal disorders, children with a confirmed CACNA1A gene mutation display eye movement disorder in early infancy, in conjunction with developmental delay with or without cerebellar atrophy on magnetic resonance imaging.[3] In our case, the most common identifiable gene of PKD, PRRT2, was positive.[4] However, the PRRT2 gene has also been linked to benign familial infantile epilepsy, infantile convulsion and choreoathetosis, episodic ataxia, and hemiplegic migraine, strengthening the link between epilepsy and movement disorders.[5] Therefore, electrophysiological studies using cortical and subcortical ictal recordings are required to evaluate the role of frontal lobe circuits to clarify whether PKD is purely an epileptic phenomenon, a movement disorder, or an amalgamation of both. Acknowledgement Nil. Author contribution Research Project: Conception: Govind Madhaw Organization: Suparna Kumar Execution: Govind Madhaw, Suparna Kumar Statistical Analysis Design: Suparna Kumar Execution: Govind Madhaw Review and Critique: Govind Madhaw, Suparna Kumar Manuscript Preparation Writing of the first draft: Suparna Kumar Review and Critique: Govind Madhaw. Ethical compliance statement We confirm that we have read the journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Suparna Kumar

Govind Madhaw

Unveiling paroxysmal kinesigenic dyskinesia: A case report of misdiagnosed epilepsy with premonitory behavioral symptoms and oculogyric crisis

揭示阵发性运动诱发性运动障碍：一份误诊为癫痫并伴有先兆行为症状和眼球危象的病例报告

Abstract Facial myokymia is a rare clinical condition that manifests as subtle, involuntary and undulating “bag of worm-” like facial movements that is pathognomonic for brainstem pathology. Although most commonly the result of demyelinating disorders such as multiple sclerosis, it rarely portends a space-occupying lesion in the brainstem, with isolated case reports of brainstem gliomas, metastatic tumors, cysticercal cysts, or tuberculomas. Here, we present the case of a 22-year-old patient with left facial myokymia and left hemifacial contracture, which were the sole presenting signs of a brainstem glioma. This report demonstrates the characteristics of these innocuous clinical signs on a clinical video and emphasizes the need to suspect an infiltrative brainstem lesion in a patient with facial myokymia, indicating prompt evaluation with brain magnetic resonance imaging.

Kautilya R. Patel

Abhijit Goyal-Honavar

Dhaval Shukla

Ravi Yadav

Facial myokymia with hemifacial contracture as the sole manifestation of a pontine glioma: A clinical video

以半面肌痉挛为唯一表现的脑桥胶质瘤：一例临床视频

Sir, PLA2G6-associated neurodegeneration (PLAN) is a subtype of Neurodegeneration with Brain Iron Accumulation (NBIA), caused by mutations in the PLA2G6 gene on chromosome 22q13.1. It traditionally manifests as three distinct phenotypes linked to age of onset: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophies (ANAD), and PLA2G6-related dystonia–parkinsonism (PLAN-DP).[1,2] We report an Indian case with childhood onset with features suggestive of an overlap of the phenotypes of PLAN. A 21-year-old boy presented with a history of insidious-onset cervical dystonia at 7 years of age after a short febrile illness. Five years later, he developed right upper limb dystonic hand tremor. He had average scholastic performance until the age of 20 years. He then presented to us at age 21 years with a 3-month history of subacute neurological worsening. The dystonia had generalized, and he complained of slowness of activities and sudden jerk-like involuntary movements. In addition, there was history of new cognitive and behavioral changes in the form of low mood, poor comprehension, difficulties in finding words, and navigational errors. The patient had second-degree consanguineous parentage, but no reported family history of similar illness. On examination, cognitive testing revealed impairments of attention, execution, working and recent memory, and visuospatial and constructional tasks. The Montreal Cognitive Assessment score was 12/30. He had generalized dystonia involving the cervical and hand and trunk regions with a dystonic neck and hand tremor, bradykinesia, and myoclonic jerks of the limbs [Video 1]. There were no pyramidal signs noted. Baseline part III motor score of the Unified Parkinson's Disease Rating Scale (UPDRS) was 41 out of 108 and the Burke–Fahn–Marsden Dystonia Rating Scale (BFMD) score was 19. The possibility of recessive dystonia–parkinsonism was considered. Subacute cognitive and psychiatric symptoms could either reflect worsening of the underlying condition or be unrelated etiologies, possibly infectious, immune, or inflammatory. Investigations aimed to rule out the latter causes. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 1","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_3uhdi8l4"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} Routine tests were normal. Brain magnetic resonance imaging (MRI) showed mild cerebral atrophy, but notably, no iron accumulation [Figures 1 and 2]. Cerebrospinal fluid analysis and whole-body positron emission tomography scan were unremarkable. Video electroencephalogram (EEG) showed generalized epileptiform discharges, although there was no clear history of seizures. Whole-exome sequencing revealed a homozygous missense variation c.2264G>A (p.Arg755Gln) in exon 16 of the PLA2G6 gene. The patient was treated with levodopa 300 mg per day and clonazepam 0.5 mg per day. Trihexyphenidyl was avoided in view of cognitive concerns. At follow-up, the UPDRS III motor score improved to 11 from 41 and the BFMD score improved to 9.5 from 19. There were no dyskinesias at the 1-year follow-up.Figure 1: MRI FLAIR image was normalFigure 2: Susceptibility Weighted Imaging did not show iron accumulationThe INAD phenotype of PLAN has infantile onset with psychomotor regression with early axial hypotonia, late spasticity, bulbar dysfunction, and dystonia with death by age 10 years. The ANAD phenotype presents later between 1.5 and 6.5 years with language difficulty and cerebellar, pyramidal, and extrapyramidal dysfunction with rapid deterioration at the end of first decade. The pathological hallmark of INAD and ANAD is axonal degeneration with distended axons present throughout the central and peripheral nervous system. Brain MRI shows characteristic iron deposition in the globus pallidus and/or substantia nigra.[1,2] The PLAN-DP variant usually presents between the late second and third decade. Presentation may be with isolated psychiatric symptoms at onset, prior to the appearance of extrapyramidal symptoms, making early diagnosis challenging. Parkinsonism usually develops in the second to third decade; it shows good levodopa responsiveness but may result in complications a few weeks to years later with "tell-tale" levodopa-induced dyskinesias. The other manifestations include dystonia, cortical myoclonus, ataxia, oculomotor involvement, and pyramidal signs. EEG abnormalities and iron deposition observed on imaging are infrequently noted in the adult-onset phenotype. Apart from symptomatic treatment with levodopa, deep brain stimulation targeting the subthalamic nucleus or globus pallidus internus has shown promising results. However, reporting bias and the lack of long-term outcome data are limiting factors, underscoring the need for further research to provide stronger evidence.[2] After ruling out possible contributors, this case was concluded to be PLAN with the following atypical features: 1) An initial first decade of dystonia is consistent with the presentation of ANAD 2) Motor onset in the first decade and neuropsychiatric issues only in third decade 3) EEG changes which are observed more commonly with INAD and ANAD than in the PLAN-DP phenotype 4) Absence of levodopa-induced dyskinesia, which is frequent in the PLAN-DP phenotype This mutation (c.2264G>A (p.Arg755Gln)) has been reported in an Indian family with INAD.[3] Moreover, the same mutation may have different phenotypes in the same pedigree, suggesting that factors other than the PLA2G6 gene may contribute to the disease course.[1-3] Table 1 summarizes previously described similar cases with overlapping features highlighted in the last rows.[1,4-6]Table 1: Review of cases with overlapping phenotypes of PLANThis case and the review of existing literature highlights that PLAN can present on a continuum of a spectrum rather than age-related rigid phenosubtypes. More literature on similar dystonia–parkinsonian disorders with a protracted course will help better understand such rare genetic disorders. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Acknowledgement We acknowledge the patient and his family for their consent and cooperation. Author contribution Each author contributed to the patient's clinical treatment, the composition and writing of the manuscript, and provided critical revisions of the text. Research project: Conception: SG, KS Organization: SG, CHM, NS, KS Execution: Statistical analysis: Design: SG, KS Execution: SG, KS Review and Critique: CHM, NS, KS Manuscript preparation: Writing of the first draft: SG, KS Review and Critique: SG, CHM, NS, KS Ethical compliance statement This work was conducted in compliance with ethical standards, and institutional review board approval was not required. We have secured informed consent from the subject for the publication of this material. The authors have reviewed the journal's ethical publication guidelines and attest that this submission adheres to them. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Surabhi Garg

Nagashree Sharma

Chandrashekar H M

Kuldeep Shetty

PLA2G6-associated neurodegeneration: A phenotypic continuum

PLA2G6相关性神经退行性疾病：一种表型连续体

Abstract Cognitive impairment can be a manifestation of a neurodegenerative disease or may have a reversible etiology. Among reversible causes, metabolic, nutritional and autoimmune conditions are commonly evaluated. We report 43-year-old lady who presented with history of personality changes first noted three years back. Subsequently, she developed slowness in speech and activities of her daily living, hypersomnolence, dream enactment, unexplained weight gain and memory impairment. Cognitive assessment revealed poor delayed recall, impaired copying, calculation deficits and bradyphrenia. Mild bradykinesia and rigidity of upper limbs were also noted. MRI brain showed minimal cerebral atrophy and gross cerebellar atrophy. Blood investigation revealed strongly positive anti Ma-2 antibodies. Whole body PET-CT was negative. Ma-2 encephalitis is characterised by diencephalic, brainstem and /or limbic involvement. Presence of Ma-2 antibodies has strong link with malignancies, commonest being the testicular cancer. Anti- neuronal antibodies in association with progressive cognitive impairment in the absence of encephalitis like picture is increasingly being recognized. Although autoimmune work up is generally advocated for rapidly progressive dementia, this case highlights the need to consider antineuronal antibody evaluation in a young individual with longer duration of symptoms.

Somdattaa Ray

Vikram V Kamath

Sowmya B Ramesh

Anti-Ma-2 associated encephalitis presenting as slowly progressive dementia and cerebellar atrophy

抗Ma-2相关性脑炎表现为缓慢进展性痴呆和小脑萎缩

Publication Information	Publisher: Wolters Kluwer Medknow Publications，Publishing cycle: ，Journal Type: journal，Open Access Journals: Yes
Basic data	Year of publication: 2018，Proportion of original research papers: 0.00%，Self Citation Rate:N.A.， Gold OA Rate: 0.00%
Average review cycle	网友分享经验：17 Weeks

Annals of Movement Disorders

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Focal myoclonic jerks after acute pontine infarct: A rare encounter

Unveiling paroxysmal kinesigenic dyskinesia: A case report of misdiagnosed epilepsy with premonitory behavioral symptoms and oculogyric crisis

Facial myokymia with hemifacial contracture as the sole manifestation of a pontine glioma: A clinical video

PLA2G6-associated neurodegeneration: A phenotypic continuum

Anti-Ma-2 associated encephalitis presenting as slowly progressive dementia and cerebellar atrophy

Focal myoclonic jerks after acute pontine infarct: A rare encounter

Unveiling paroxysmal kinesigenic dyskinesia: A case report of misdiagnosed epilepsy with premonitory behavioral symptoms and oculogyric crisis

Facial myokymia with hemifacial contracture as the sole manifestation of a pontine glioma: A clinical video

PLA2G6-associated neurodegeneration: A phenotypic continuum

Anti-Ma-2 associated encephalitis presenting as slowly progressive dementia and cerebellar atrophy

ISSN	2590-3446, 2590-3454
h-index	6